Varaico: Literature-Extracted Genetic Variants

Gene:CYP17A1
Variant:p.F435S
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CYP17A1

NM_000102.4:p.F435S

Associated Papers

Assisted reproductive treatment for primary infertility in patients with partial or isolated 17α-hydroxylase/17,20-lyase deficiency: a case series and literature review.

Chai Q et al.

Journal of Assisted Reproduction and Genetics, 2025

A novel homozygous CYP17A1 mutation causes partial 17 α-hydroxylase/17,20-lyase deficiency in 46,XX: a case report and literature review.

Chen H et al.

Blood Pressure, 2023

[Clinical and genetic analysis of a patient with isolated 17,20 lyase deficiency presenting with pubertal gynecomastia].

Yin H et al.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2022

A Novel Compound Heterozygous CYP17A1 Variant Causes 17α-Hydroxylase/17, 20-Lyase Deficiency.

Chen H et al.

Frontiers in Genetics, 2019

A novel compound heterozygous mutation in the CYP17A1 gene in a patient with 17α-hydroxylase/17,20-lyase deficiency.

Sun M et al.

Discovery Medicine, 2017

[Genetic mutation analysis of a kindred with a patient suffering from 17 alpha-hydroxylase/17, 20-lyase deficiency].

Chen Y et al.

Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2009

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."